NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter) AND Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- Germline classification:
- Likely pathogenic (3 submissions)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001255830.7
Allele description [Variation Report for NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)]
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)
Condition(s)
-
CEP104 [Leptonychotes weddellii]
CEP104 [Leptonychotes weddellii]Gene ID:102747908Gene
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024